NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 2, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000244315.11

Allele description [Variation Report for NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)]

NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)

Gene:

MYBPC3:myosin binding protein C3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

Preferred name:

NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr)

HGVS:

NC_000011.10:g.47332912A>G
NG_007667.1:g.24791T>C
NM_000256.3:c.3392T>CMANE SELECT
NP_000247.2:p.Ile1131Thr
LRG_386t1:c.3392T>C
LRG_386:g.24791T>C
LRG_386p1:p.Ile1131Thr
NC_000011.9:g.47354463A>G
Q14896:p.Ile1131Thr
c.3392T>C

Protein change:

I1131T

Links:

UniProtKB: Q14896#VAR_029428; dbSNP: rs370890951

NCBI 1000 Genomes Browser:

rs370890951

Molecular consequence:

NM_000256.3:c.3392T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000319934	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Likely benign (Jan 2, 2019)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 14563344, 15519027, 16352453, 20624503, 22361390, 23140321, 23785128, 24503780 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000319934

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Likely benign
(Jan 2, 2019)

germline

clinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M.

Eur Heart J. 2003 Oct;24(20):1848-53.

PubMed [citation]

PMID:: 14563344

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Nov 2;44(9):1903-10.

PubMed [citation]

PMID:: 15519027

See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000319934.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (8)

Description

This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 20, 2024

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